Heutink P - Search Results

1

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: heutink p. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876

2

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: heutink p. Ann Neurol. 2002 Mar;51(3):373-6. doi: 10.1002/ana.10140. Ann Neurol. 2002. PMID: 11891833

3

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Bonifati V, et al. Among authors: heutink p. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21. Science. 2003. PMID: 12446870

4

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P. van Swieten JC, et al. Among authors: heutink p. Am J Hum Genet. 2003 Jan;72(1):191-9. doi: 10.1086/345488. Epub 2002 Dec 13. Am J Hum Genet. 2003. PMID: 12489043 Free PMC article.

5

Clinical features and neuroimaging of PARK7-linked parkinsonism.

Dekker M, Bonifati V, van Swieten J, Leenders N, Galjaard RJ, Snijders P, Horstink M, Heutink P, Oostra B, van Duijn C. Dekker M, et al. Among authors: heutink p. Mov Disord. 2003 Jul;18(7):751-7. doi: 10.1002/mds.10422. Mov Disord. 2003. PMID: 12815653

6

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: heutink p. Brain. 2003 Sep;126(Pt 9):2016-22. doi: 10.1093/brain/awg204. Epub 2003 Jul 22. Brain. 2003. PMID: 12876142

7

Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations.

Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: heutink p. Arch Neurol. 2003 Sep;60(9):1209-13. doi: 10.1001/archneur.60.9.1209. Arch Neurol. 2003. PMID: 12975285

8

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC. van Herpen E, et al. Among authors: heutink p. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646

9

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.

Rizzu P, Hinkle DA, Zhukareva V, Bonifati V, Severijnen LA, Martinez D, Ravid R, Kamphorst W, Eberwine JH, Lee VM, Trojanowski JQ, Heutink P. Rizzu P, et al. Among authors: heutink p. Ann Neurol. 2004 Jan;55(1):113-8. doi: 10.1002/ana.10782. Ann Neurol. 2004. PMID: 14705119

10

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

van Swieten JC, Rosso SM, van Herpen E, Kamphorst W, Ravid R, Heutink P. van Swieten JC, et al. Among authors: heutink p. Dement Geriatr Cogn Disord. 2004;17(4):261-4. doi: 10.1159/000077150. Dement Geriatr Cogn Disord. 2004. PMID: 15178932 Review.

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